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. 2023 Dec 15;12(24):7707.
doi: 10.3390/jcm12247707.

Cancer Risk in Patients with Gaucher Disease Using Real-World Data

Shoshana Revel-Vilk  1   2   3 , Ari Zimran  1   2 , Majdolen Istaiti  1 , Liat Azani  4 , Varda Shalev  5 , Gabriel Chodick  5 , Orly Manor  3 , Ora Paltiel  2   3
Affiliations

Cancer Risk in Patients with Gaucher Disease Using Real-World Data

Shoshana Revel-Vilk et al. J Clin Med. .

Abstract

The association between GD and cancer has been uncertain due to ascertainment bias in previously published studies. We analyzed cancer incidence using the Maccabi Healthcare Service (MHS) electronic health records among 264 patients with GD compared to 3440 matched controls. We ascertained cancers diagnosed before and after the index date (i.e., the first documentation of GD in cases and the corresponding date for controls). Before the index date, cancers were diagnosed in 18 individuals, with 11 (4.2%) in the GD group and 7 (0.2%) in the control group. After the index date, cancers were diagnosed in 57 individuals, with 20 (7.9%) in the GD group and 37 (1.1%) in the control group, with a median follow-up of almost 13 years in both groups. The most common cancers diagnosed in GD were non-melanoma skin cancer (NMSC) and hematological malignancies, with a clustering of diagnoses around the time of GD diagnosis. The incidence of cancers (excluding MNSC) was 4.1 (95% CI 2.2-7.1) and 0.7 (95% CI 0.4-0.9) per 1000 patient-years in the GD and control groups, respectively, with an incidence rate ratio of 6.37 (95% CI 3-12.7). Patients with GD underwent more cancer screening tests than their counterparts in the control group. While our study revealed an increased occurrence of cancers in patients with GD, this finding might be partly attributed to the more rigorous surveillance procedures employed in this patient population.

Keywords: Gaucher disease; cancer; real-life data; screening bias; surveillance bias.

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Conflict of interest statement

S.R.-V. reports receiving grant/research support, honoraria, and advisory fees from Takeda, Pfizer, and Sanofi/Genzyme; A.Z. reports receiving honoraria from Takeda, Pfizer, and Bio-events, being a consultant for Takeda, and having ownership at Agyany Pharma Ltd. V.S. is the chief marketing officer of Alike and has received speaker fees from Novartis and Roche; M.I., L.A., G.C., O.M. and A.P. declare that they have no competing interests.

Figures

Figure 1
Figure 1
Cancer-free survival during follow-up after the index date for (a) all types of cancer and (b) excluding non-melanoma skin cancer. Subjects with a cancer diagnosis prior to the index date or no follow-up data were excluded. From the cohort (b), subjects with a diagnosis of non-melanoma skin cancer were also excluded. Comparison between patients and controls was conducted using the log-rank test, and the hazard ratio with a 95% confidence interval was calculated.
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